Varaico: Literature-Extracted Genetic Variants

Gene:EDN1
Variant:p.I156T

EDN1

405 papers

RefSeq Summary

This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its c...

Pfam Domains

Endothelinaa 49–77UCSCEndothelin family
Endothelinaa 49–77UCSCEndothelin family

Gene Aliases

HGNC Name

endothelin 1

HGNC Alias Symbol

ET1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001955.5
p.I156T
c.467T>C
Surrounding Variants
1 paper
NM_001955.5
p.C155Y
c.464G>A
4 papers
NM_001955.5
p.G152E
c.455G>A
1 paper
NM_001955.5
p.R162del1
c.484_485delAGA
3 papers
NM_001955.5
p.G163E
c.488G>A
1 paper
NM_001955.5
p.S149ins1
c.446_447insAAC
1 paper
NM_001955.5
p.K165N
c.495A>C
1 paper
NM_001955.5
p.G145E
c.434G>A
1 paper
NM_001955.5
p.G145*
c.433G>T
2 papers
NM_001955.5
p.S170L
c.509C>T
1 paper
NM_001955.5
p.E171Q
c.511G>C
1 paper
NM_001955.5
p.H173Q
c.519C>A
1 paper
NM_001955.5
p.H173Q
c.519C>G
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